Mutagenetix > Incidental Mutation

Incidental Mutation 'R4413:Sohlh2'

328003

Institutional Source

Beutler Lab

Gene Symbol

Sohlh2

Ensembl Gene

ENSMUSG00000027794

Gene Name

spermatogenesis and oogenesis specific basic helix-loop-helix 2

Synonyms

4933406N12Rik

MMRRC Submission

041136-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R4413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55089465-55117378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55104423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 264 (T264K)

Ref Sequence

ENSEMBL: ENSMUSP00000029369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029369]

AlphaFold

Q9D489

Predicted Effect

probably damaging
Transcript: ENSMUST00000029369
AA Change: T264K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: T264K

Domain	Start	End	E-Value	Type
HLH	206	257	4.2e-8	SMART
low complexity region	426	446	N/A	INTRINSIC
low complexity region	449	461	N/A	INTRINSIC

Meta Mutation Damage Score

0.1175

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (42/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to female and male infertility due to defects in early oocyte and spermatogonial differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Bcdin3d	A	G	15: 99,368,614 (GRCm39)	L195P	probably damaging	Het
Bltp1	A	G	3: 37,012,830 (GRCm39)		probably null	Het
Col11a1	T	A	3: 113,901,965 (GRCm39)	S553R	unknown	Het
Cp	A	T	3: 20,020,517 (GRCm39)	D170V	probably damaging	Het
Dnah17	C	T	11: 117,915,994 (GRCm39)	A4303T	probably benign	Het
Dpp4	G	A	2: 62,217,484 (GRCm39)	R38C	possibly damaging	Het
Dusp6	C	T	10: 99,099,786 (GRCm39)	T78M	probably damaging	Het
Exoc1	A	G	5: 76,689,866 (GRCm39)		probably benign	Het
Fbxl13	A	T	5: 21,787,051 (GRCm39)	C295*	probably null	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gstm4	T	A	3: 107,950,644 (GRCm39)	D85V	possibly damaging	Het
Hectd4	A	G	5: 121,488,544 (GRCm39)	N3612D	possibly damaging	Het
Izumo3	T	C	4: 92,035,136 (GRCm39)	D27G	probably damaging	Het
Kcna4	T	A	2: 107,125,718 (GRCm39)	C151S	probably benign	Het
Lrrc10	A	G	10: 116,881,719 (GRCm39)	N131S	probably damaging	Het
Madd	A	G	2: 90,997,932 (GRCm39)	S699P	probably damaging	Het
Mcpt4	A	T	14: 56,297,993 (GRCm39)	V186D	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Mrm1	G	T	11: 84,710,054 (GRCm39)	R49S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Noct	C	T	3: 51,157,756 (GRCm39)	R365W	probably damaging	Het
Ntn1	C	T	11: 68,276,736 (GRCm39)	G71S	probably damaging	Het
Or10x1	T	C	1: 174,197,040 (GRCm39)	S186P	probably damaging	Het
Plekhg3	A	C	12: 76,624,538 (GRCm39)	T1127P	probably damaging	Het
Rhbdl2	A	T	4: 123,703,880 (GRCm39)	M52L	probably benign	Het
Saxo5	T	A	8: 3,533,529 (GRCm39)	H278Q	probably damaging	Het
Slc10a1	T	C	12: 81,004,906 (GRCm39)	N212S	probably benign	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Syn3	C	A	10: 85,891,456 (GRCm39)		probably benign	Het
Taf5	T	A	19: 47,059,453 (GRCm39)	V199D	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnk2	C	T	16: 32,488,319 (GRCm39)	R191C	probably damaging	Het
Ttn	A	G	2: 76,556,120 (GRCm39)	I21968T	probably damaging	Het
Ubxn6	A	T	17: 56,376,303 (GRCm39)	V311E	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Vmn2r99	T	A	17: 19,599,522 (GRCm39)	V402E	probably damaging	Het
Zfp462	A	G	4: 55,012,672 (GRCm39)	D1546G	probably damaging	Het

Other mutations in Sohlh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Sohlh2	APN	3	55,115,236 (GRCm39)	missense	probably damaging	1.00
IGL00574:Sohlh2	APN	3	55,111,747 (GRCm39)	splice site	probably benign
IGL01434:Sohlh2	APN	3	55,102,582 (GRCm39)	missense	probably damaging	1.00
IGL02200:Sohlh2	APN	3	55,097,977 (GRCm39)	missense	probably damaging	1.00
G1citation:Sohlh2	UTSW	3	55,115,107 (GRCm39)	missense	probably damaging	1.00
R0362:Sohlh2	UTSW	3	55,115,163 (GRCm39)	missense	probably damaging	1.00
R0540:Sohlh2	UTSW	3	55,115,104 (GRCm39)	missense	probably damaging	0.99
R0607:Sohlh2	UTSW	3	55,115,104 (GRCm39)	missense	probably damaging	0.99
R0732:Sohlh2	UTSW	3	55,097,794 (GRCm39)	critical splice donor site	probably null
R1878:Sohlh2	UTSW	3	55,115,064 (GRCm39)	missense	probably damaging	0.97
R2001:Sohlh2	UTSW	3	55,099,762 (GRCm39)	splice site	probably null
R2070:Sohlh2	UTSW	3	55,115,043 (GRCm39)	missense	probably benign	0.18
R2071:Sohlh2	UTSW	3	55,115,043 (GRCm39)	missense	probably benign	0.18
R4412:Sohlh2	UTSW	3	55,104,423 (GRCm39)	missense	probably damaging	1.00
R4714:Sohlh2	UTSW	3	55,097,950 (GRCm39)	missense	probably benign	0.00
R5709:Sohlh2	UTSW	3	55,099,723 (GRCm39)	missense	probably benign	0.03
R5818:Sohlh2	UTSW	3	55,097,922 (GRCm39)	missense	probably damaging	1.00
R6173:Sohlh2	UTSW	3	55,104,419 (GRCm39)	missense	probably benign	0.26
R6822:Sohlh2	UTSW	3	55,115,107 (GRCm39)	missense	probably damaging	1.00
R6850:Sohlh2	UTSW	3	55,099,707 (GRCm39)	missense	probably benign	0.05
R8943:Sohlh2	UTSW	3	55,104,282 (GRCm39)	missense	possibly damaging	0.71
R9789:Sohlh2	UTSW	3	55,099,721 (GRCm39)	missense	probably damaging	1.00
X0023:Sohlh2	UTSW	3	55,104,197 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AGTTATCGAGGCCACAGTTG -3'
(R):5'- AGTGGGAGACAGTCGTGAATCC -3'

Sequencing Primer
(F):5'- CACAGTTGATTATGTGAAGCAGGTCC -3'
(R):5'- GGAGACAGTCGTGAATCCCTAAC -3'

Posted On

2015-07-07